9th I-DSD Symposium 2022 Programme

14-16th July 2022, Bern, Switzerland, University Hospital Bern.

All times in CEST

9th I-DSD Symposium Programme

I-DSD Training WorkshopThursday July 14th 2022 (09:00 -12:30) (Additional registration fee)
Choice of 3 workshops out of 4 lasting 45 mins each

The I-DSD/I-CAH/I-TS registries
Angela Lucas-Herald/Salma Ali Glasgow, UK
Bioinformatic analysis  
Amit Pandey Bern, Switzerland  
Communication with a new parent or patient
Katie Traino
Oklahoma City, USA  
Interpretation of endocrine tests
Tülay Güran Istanbul, Turkey

Symposium Day 1 (Thursday, July 14th 2022)
Registration & Coffee from 11:30
13:00: Opening
Session 1 – Setting the Scene (13:00-13:35) Chair: Anna Nordenström, Stockholm, Sweden
13:00 – 13:05 Christa Flück, Bern, Switzerland
13:05 – 13:20 Patients’ experiences in Switzerland
13:20 – 13:35 Patient support & advocacy – Arlene Smyth, Turner Syndrome International
Session 2 – International Collaboration (13:40-14:15) Chair: Faisal Ahmed, Glasgow, UK
13:40 – 13:45 Endo-ERN – Olaf Hiort, Lübeck Germany
13:45 – 13:50 ESPE DSD working group – Tülay Güran, Istanbul, Turkey
13:50 – 13:55 APEG DSD Working Group – Michelle O’Connell, Melbourne, Australia
13:55 – 14:00 PES DSD Working Group – Courtney Finlayson, Chicago, USA
14:00 – 14:05 I-DSD/I-CAH – Christa Flück, Bern, Switzerland
14:05 – 14:15 Discussion
Oral Communications 1 (OC1) (14:20-15:30)
Chairs: Rade Vukovic, Belgrade, Serbia, Angela Lucas-Herald, Glasgow, UK
14:20 – 14:30 Current management of acute adrenal insufficiency related adverse
effects in children with congenital adrenal hyperplasia – results of an international survey of specialist centres – Salma Ali, Glasgow, UK
14:30 – 14:40 Identification of small regions of overlap from copy number variable regions reveals candidate genes and novel chromosome loci for hypospadias – Ina Amarillo, St Louis, USA
14:40 – 14:50 The international SF1 next project: Description of a cohort of 107 individuals with SF-1/NR5A1 variants – Chrysanthi Kouri, Bern, Switzerland
14:50 – 15:00 Pathway to Care among People with Disorders of Sex Development: Cohort ProfileDavid E Sandberg, Ann Arbor, USA
15:00 – 15:10 Designing a best-worst scaling survey for defining successful outcomes and trade-offs in DSD care – Erica Weidler, Phoenix, USA
15:10 – 15:20 A novel POR variant recurrently found in Argentine patients results in a wide spectrum of undervirilised phenotypes in 46,XY patients – Jimena Lopez Dacal, Buenos Aires, Argentina
15:20 – 15:30 Timing of reconstructive surgery for individuals with differences of sex development (DSD): Stakeholder views on successful outcomes – Kathleen van Leeuwen, Phoenix, USA

Coffee Break 15:30 – 16:00
Session 3 – Reaching A Genetic Diagnosis In The Era Of NGS (16:00-17:30) Chair: Olaf Hiort, Luebeck, Germany
16:00 – 16:25 The clinical approach – Ruth McGowan, Glasgow, UK
16:25 – 16:50 Advances in insilico analysis – Katie Ayers, Melbourne, Australia
16:50 – 17:15 Functional analysis – Anu Bashamboo, Paris, France
17:15 – 17:30 Discussion
Free Evening
Symposium Day 2 (Friday, July 15th 2022)
Session 4 –Adrenal & Gonadal Development  (08:15-09:45) Chair: Amit Pandey, Bern, Switzerland
08:15 – 08:40 Mouse models for DSD – Serge Nef, Geneva, Switzerland
08:40 – 09:05 Novel therapeutic models for adrenal disorders – Leo Guasti, London, UK
09:05 – 09:30 Novel models of the gonads – Anna Lauber-Biason, Fribourg, Switzerland
09:30 – 09:45 Discussion
Oral communications 2 (OC2) (09:50-11:00)  
Chairs: Meilan Rutter, Cincinnati, USA, Grit Sommer, Bern, Switzerland
09:50 – 10:00 Caregiver Perceptions of Stigma Associated with their Child’s Difference of Sex Development – Kristina I. Suorsa-Johnson, Salt Lake City, USA
10:00 – 10:10 Sexual Development and prenatal growth. Analysis of the prevalence of being born Small for Gestational Age (SGA) in a large DSD cohort, and the genotypic frequency of GHR gene polymorphism in non-disgenetic undiagnosed 46,XY DSD patients – María Celeste Mattone, Buenos Aires, Argentina
10:10 – 10:20 “I believe God doesn’t make mistakes, and I am wonderfully made in His image”: The intersection of religion/faith and clinical care in Differences of Sex Development – Meilan Rutter, Cincinnati, USA
10:20 – 10:30 Experiences and needs of variation in sex characteristics peer support members in the prenatal setting – Michele O’Connell, Melbourne, Australia
10:30 – 10:40 46,XY Partial gonadal dysgenesis; diagnosis and long-term outcome at puberty – Rieko Tadokoro Cuccaro, Cambridge, UK
10:40 – 10:50. Genital skin wound healing is associated with the extent of external virilisation in boys with hypospadias – Angela Lucas-Herald, Glasgow, UK
10:50 – 11:00 Psychological impact on parents of children born with atypical genitalia in India – Tanvi Bindal

Coffee Break 11:00 – 11:30 
Session 5 – Hypospadias – a disorder of sex development or not (11:30 – 13:00) Chair: Margarett Shnorhavorian, Seattle, USA
11:30 – 11:50 Acquired or genetic  – Jorma Toppari, Turku, Finland
11:50 – 12:10 The views of an endocrinologist – Sabine Hannema, Amsterdam, Netherlands
12:10 – 12:30 The views of a psychologist -Norma Ruppen, Zurich, Switzerland
12:30 – 12:50 The views of a surgeon – Emilie Johnson, Chicago, USA
12:50 – 13:00 Round table

Lunch 13:00 – 14:00
Session 6 – Debate (14:00 – 15:15)This house believes that clinical psychology care should be provided proactively in every case of atypical genitalia’
14:00 – 14:05 Introduction and poll – Christa Flueck, Bern, Switzerland
14:05 – 14:25 For – Vickie Pasterski, Cambridge, UK
14:25 – 14:45 Against – David Sandberg, Ann Arbor, USA
14:45 – 15:15 Discussion & poll

Coffee and Posters 15:15 – 15:30 (Ground floor)
15:30 – 17:30 Guided poster rounds
19:30 – Social Evening
Symposium Day 3 (Saturday July 16th 2022)
Session 7 – Endocrine aspects at transition & beyond (09:00 – 10:45) Chair: Carla Bizzari, Rome, Italy
09:00 – 09:25 Importance of transition for long term care – Philippe Touraine, Paris, France
09:25 – 09:50 Management of hypogonadotropic hypogonadism – Julia Rohayem, Munster, Germany
09:50 – 10:15 Assisted conception in Klinefelters -Claus Gravholt, Aarhus
10:15 – 10:40 Long-term psychosocial outcome – Baudewijntje Kreukels, Amsterdam, Netherlands
10:40 – 10.50 Discussion

Coffee Break 10:50 – 11:15
Session 8 – Future Directions (11:15 – 13:15) Chair: Hedi Claahsen, Nijmegen, Netherlands
11:15 – 11:40 Incorporating DSD concepts in the undergraduate curriculum – Ina Amarillo, St Louis, USA
11:40 – 12:05 The role of patient organisations in influencing care and research – Johan de Graaf, Netherlands
12:05 – 12:30 Incorporating the ethical dimension into clinical practice – Jürg Streuli, Zurich, Switzerland
12:30 – 12:55 Benchmarking of care in DSD & CAH – Justin Davies, Southampton, UK
12:55 – 13:15 Discussion
13:15 – Close (Faisal Ahmed)
Optional Small Group Networking Breakout With Packed Lunch 13:15-14:30

The 9th International Symposium on DSD and PG course, Bern, Switzerland, 14/07/2022-16/07/2022 has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) with 11 European CME credits (ECMEC®s). Each medical specialist should claim only those hours of credit that he/she actually spent in the educational activity

Sponsors of I-DSD 2022